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Growth hormone therapy in patients with Noonan syndrome

Seo GH, Yoo HW

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include...
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A case of transent erythroblastopenia of childhood

Seo GH, Kim AY, Cho KS, Cho JD

  • KMID: 1691315
  • J Korean Pediatr Soc.
  • 1992 Apr;35(4):551-555.
No abstract available.
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Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: a case report and review

Kim MR, Yoo EG, Rhie S, Seo GH, Jung MK

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Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12

Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which...
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A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy

Kim SH, Seo GH, Oh SH, Chung WY, Yu J

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Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH, Seo EJ, Yoo HW

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis....
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Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency

Kim YM, Seo GH, Kim GH, Yoo HW, Lee BH

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes...
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Estimation of Creatinine Clearance in Patients with Malignancy

Seo GH, Kim HY, Lee YH, Huh W, Kim YG, Kim DJ, Park KC, Park CH, Oh HY

  • KMID: 2254672
  • Korean J Nephrol.
  • 1998 Mar;17(2):243-249.
No abstract available.
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Clinical Manifestations and Significance of Mononeuritis Multiplex in Systemic Necrotizing Vasculitis

Kim J, Cha HS, Seo GH, Ahn HJ, Lee CK, Koh JH, Kim HS, Choi DC, Koh EM

  • KMID: 1544920
  • J Korean Rheum Assoc.
  • 1999 Mar;6(1):23-30.
No abstract available.
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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy

Kim D, Kim YM, Seo GH, Kim GH, Yoo HW, Yum MS, Ko TS, Lee BH

Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a...
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Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-mendelian Fashion

Kim BJ, Jeon H, Lee SY, Yi N, Han JH, Seo GH, Oh SH, Choi BY

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Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay

Seo GH, Kim JH, Cho JH, Kim GH, Seo EJ, Lee BH, Choi JH, Yoo HW

PURPOSE: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported...
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Genetic and clinical characteristics of Korean patients with neurofibromatosis type 2

Kim HJ, Seo GH, Kim YM, Kim GH, Seo EJ, Ra YS, Choi JH, Yoo HW, Lee BH

PURPOSE: Neurofibromatosis type 2 (NF2) is characterized by multiple tumors, including vestibular schwannoma (VS) and others affecting cranial and peripheral nerves. NF2 is caused by mutation of the NF2 gene....
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A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

Kim DH, Heo SH, Seo GH, Oh A, Kim T, Kim GH, Yoon YH, Yoo HW, Lee BH

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In...
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The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

Chung EJ, You E, Oh SH, Seo GH, Chung WY, Kim YJ, Kim SJ

No abstract available.
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Two Cases of Localized Nodular Myositis

Seo GH, Kim JE, Kim JS, Koh EM, Rhee CH, Ahn JM, Suh YL

  • KMID: 2202555
  • J Korean Rheum Assoc.
  • 1998 Mar;5(1):146-151.
Localized nodular myositis is an uncommon benign inflammatory myopathy of unkonwn cause affecting skeletal muscle and, presenting as a localized painful swelling within the soft tissue of an extremity. Histological...
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Allopurinol Induced Abnormalities of Liver Function Test in Gout Patients

Seo GH, Ahn HJ, Cha HS, Kim JS, Koh KC, Koh EM

  • KMID: 1544928
  • J Korean Rheum Assoc.
  • 1999 Mar;6(1):62-68.
Liver function tests before treatment showed abnormalities of liver function tests during treatment, while 15(68. 2%) of 22 patients who had abnormal liver function tests before treatment showed abnormalities during...
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Ehlers-Danlos syndrome VIII with novel C1R variant accompanying white matter changes

Seo GH, Kim YM, Ghang B, Kim GH, Lee BH

Ehlers-Danlos syndrome (EDS) VIII is an autosomal dominant inherited connective tissue disorder characterized by intractable periodontal inflammation, absence of gingiva, pretibial plaques, skin hyperextensibility, joint hypermobility, and tissue fragility with...
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A Case of Renal Hypouricemia and Hypercalciuria

Seo GH, Bae SS, Park SJ, Kim HY, Huh WS, Lee YH, Kim YG, Oh HY

  • KMID: 2307363
  • Korean J Nephrol.
  • 1998 Jan;17(1):128-133.
We encountered a case of renal hypouricemia and absorptive hypercalciuria. Although renal hypouricemia is asymptomatic as usual, it is rarely complicated with acute renal failure and urolithiasis. A 43-year-old man...
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The Comparative Risk of Serious Adverse Events With Tofacitinib and TNF Inhibitors in Patients With Ulcerative Colitis: The Korean Experience as Revealed by a National Database

Seo GH, Jung SH

Tofacitinib is an oral, small-molecule Janus kinase inhibitor approved in South Korea for the treatment of moderate to severe ulcerative colitis (UC) on May 1, 2019. However, safety data are...
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